Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100190938A>G , CM000663.2:g.100190938A>G | GRCh38 |
| NC_000001.10:g.100656494A>G , CM000663.1:g.100656494A>G | GRCh37 |
| NC_000001.9:g.100429082A>G | NCBI36 |
| NG_011852.2:g.63916T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001918.5:c.*5317T>C MANE Select | NP_001909.4:n.*5317T>C |
| ENST00000370132.8:c.*5317T>C MANE Select | ENSP00000359151.3:n.*5317T>C |
| NM_001399969.1:c.*5317T>C | NP_001386898.1:n.*5317T>C |
| NM_001399972.1:c.*5317T>C | NP_001386901.1:n.*5317T>C |
| NM_001918.3:c.*5317T>C | NP_001909.3:n.*5317T>C |
| NM_001918.4:c.*5317T>C | NP_001909.3:n.*5317T>C |
| NR_174363.1:n.6598T>C | |
| NR_174364.1:n.6939T>C | |
| NR_174365.1:n.6563T>C | |
| NR_174366.1:n.6865T>C |